G113S (p.Gly113Ser) variant of CYP2A6 (Cytochrome P450 2A6)
G113S (p.Gly113Ser) in CYP2A6 (Cytochrome P450 2A6) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
G113S (p.Gly113Ser) variant details
- p.Gly113Ser
- rs774455621
- NCI-TCGA Cosmic COSV5653
- ExAC rs774455621
- TOPMed rs774455621
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.15
- CADD 21.10
- PolyPhen-2 0.17
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00013)
- Structural context available